Trevor's disease involving the fifth metatarsal of the left foot: a case report

Dysplasia epiphysealis hemimelica (Trevor's disease) is a rare developmental disorder of epiphyseal growth. A review of the literature reveals that metatarsal involvement has been described in only two cases and in these cases two metatarsals were reported as being only slightly enlarged. This article reports a case of dysplasia epiphysealis hemimelica involving the medial half of the epiphysis of the left fifth metatarsal.     

Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica

Trevor's disease is a rare abnormality characterized by aberrant osteocartilaginous growth from an epiphysis. We describe six new cases from our institution. A patient with isolated tibial tuberosity involvement is described for the first time. Each patient was classified according to Azouz into localized (three), classical (two) and generalized (one) form. We recommend that parents be counseled regarding the progressive nature of this disorder owing to the chance of worsening deformity with surgical excision alone, and the need to be followed until skeletal maturity.     

Testicular mature teratoma with onset during childhood and removed 40 years later: a case report

A 56-year-old man presented with a painless mass in the left scrotum. The mass was first noticed when he was a junior high school student,and it had been left for about 40 years. The intrascrotal tumor of 7 cm in diameter was elastic soft and smooth. The serum levels of α -fetoprotein, β -human chorionic gonadotropin and lactate dehydrogenase were within each individual normal range. He was diagnosed as having a left testicular tumor (cT1N0M0) and underwent left high orchiectomy. Histopathological diagnosis was mature teratoma without any malignant germ cell components. No evidence of recurrence has been observed for 4 years after the operation.     

Adult onset Still's disease with normal level of serum ferritin

We present a case of an adult onset Still's disease: a 51 year old men presented with one month history of high spiking fever, asymmetric migratory polyarthritis and a previous history of pharyngitis. The diagnostic was based upon clinical criteria and laboratory findings, and necessitated the exclusion of infectious, neoplastic, and other "autoimmune" disease. The systemic involvement in our case induced us to comment therapy with corticosteroid. Patients with systemic disease have a favorable prognosis, with only rare serious complications from the disease (pericarditis, tamponade, diffuse intravascular coagulation, amyloidosis, hepatic disease, and respiratory failure) or the treatment (infections, gastrointestinal bleeding etc.).     

Juvenile Blount's disease: bilateral case with asynchronous onset

 We encountered a rare case of bilateral juvenile Blount's disease diagnosed as unilateral at the onset. The patient was a 9-year-old girl who visited our outpatient clinic with pain and deformity in the left knee. Examination of the left knee showed severe varus deformity. Correction of the varus deformity and tibial shortness was carried out at the same time by the callotasis method using an Orthofix external fixator. During follow-up the varus deformity in her right knee gradually progressed. At 18 months after the initial surgery, the right varus deformity and tibial shortness were corrected at the same time by the callotasis method using an Orthofix external fixator; proximal epiphysiodesis was also performed. The coronal-plane alignment of both knees remains good. In cases with bilateral involvement of Blount's disease, the onset of the deformity is usually nearly synchronous. In some cases, however, it begins unilaterally, as with this patient, so it is essential to check both sides by means of tomography or magnetic resonance imaging and not just radiography. Moreover, we must be careful to plan the treatment in such a case so as to anticipate possible leg-length discrepancy problems. Received: March 18, 2002 / Accepted: November 5, 2002 Offprint requests to: K. Shimode     

Adult onset of tethered spinal cord syndrome due to fibrous diastematomyelia: case report

Adult onset of the symptoms of tethered spinal cord is a rare entity that is occasionally associated with diastematomyelia. Only one case of fibrous diastematomyelia in an adult has been reported. The fibrous nature of this disease may present a diagnostic difficulty. A 32-year-old man with the adult onset of impairment of sacral functions with lumbar fibrous diastematomyelia is reported. Surgical release of the spinal cord was followed by improvement of the patient's function.     

Adult onset tubulointerstitial nephritis and uveitis syndrome

A Turkish woman aged 44 years who presented with a 1 month history of abdominal pain, fatigue and weight loss of 10 kg was diagnosed as having acute tubulointerstitial nephritis. Opthalmological evaluation revealed unilateral uveitis and contralateral chorioretinal scarring. X-ray films of the pelvis revealed unilateral sacroileitis. An elevated erythrocyte sedimentation rate, C-reactive protein, tubular proteinuria and renal glucosuria returned to normal 2 weeks after treatment was started. It is important to be aware of tubulointerstitial nephritis and uveitis syndrome in order to achieve a quick diagnosis in patients with renal impairment and tubular dysfunction with minor symptoms so that appropriate management can be started early.     

Paraganglioma of bladder with recurrence ten years later.

A paraganglioma (pheochromocytoma) of the bladder recurred ten years after initial transurethral resection. This case demonstrates principles regarding diagnosis, malignancy potential, and treatment of this rare neoplasm.     

Dysplasia epiphysealis hemimelica (Trevor's disease): 7 of our own cases and a review of the literature

Background and purpose Dysplasia epiphysealis hemimelica is characterized by irregular overgrowth of cartilage in the epiphysis, usually affecting the knee and ankle. We treated 7 children by surgery between 1980 and 2005. After reporting one child case, we summarize our cases and the cases described in the literature.

Method We discuss the diagnosis of this dysplasia, especially the role of radiography. We describe the suggested treatment, which could be surgical or non-surgical depending on the location and the symptoms.

Results After reviewing 57 cases, we found that this dysplasia occurs twice as often in males as in females. The medial side of the epiphysis is affected twice as often as the lateral side. In two-thirds of the cases, more than one epiphysis was affected. If the location of the exostosis suggests that it might lead to joint deformity, early surgical excision is recommended.

Interpretation Since there is often involvement of more than one epiphysis, we emphasize the importance of a skeletal survey once this dysplasia is diagnosed.     

Dysplasia epiphysealis hemimelica (Trevor's disease): 7 of our own cases and a review of the literature

Background and purpose Dysplasia epiphysealis hemimelica is characterized by irregular overgrowth of cartilage in the epiphysis, usually affecting the knee and ankle. We treated 7 children by surgery between 1980 and 2005. After reporting one child case, we summarize our cases and the cases described in the literature.

Method We discuss the diagnosis of this dysplasia, especially the role of radiography. We describe the suggested treatment, which could be surgical or non-surgical depending on the location and the symptoms.

Results After reviewing 57 cases, we found that this dysplasia occurs twice as often in males as in females. The medial side of the epiphysis is affected twice as often as the lateral side. In two-thirds of the cases, more than one epiphysis was affected. If the location of the exostosis suggests that it might lead to joint deformity, early surgical excision is recommended.

Interpretation Since there is often involvement of more than one epiphysis, we emphasize the importance of a skeletal survey once this dysplasia is diagnosed.     

Adult onset tethered cord syndrome associated with intradural dermoid cyst. A case report

STUDY DESIGN: A case report and a review of literature. OBJECTIVES: To describe a rare case of adult onset tethered cord syndrome associated with intradural dermoid cyst. SETTING: General Orthopedics, Japan. METHODS: A 50-year-old woman was referred to us because of right leg pain and pollakiuria. Neurological examinations and radiological assessments including myelography, computerized tomography scan and Magnetic resonance image were carried out. We diagnosed it as the adult onset tethered cord syndrome associated with an intradural cystic lesion. RESULTS: The cystic lesion was totally removed following laminectomy from L5 through S4. Histologically, the tumor was diagnosed as a dermoid cyst. CONCLUSIONS: Intradural dermoid could produce adult onset tethered cord syndrome, but it was not reported in the English literatures to our knowledge.     

Complications of peristomal recurrence of Crohn's disease: a case report and a review of literature

Patients with Crohn's disease and colonic inflammation that proves refractory to medical therapy often require a proctocolectomy and end ileostomy. Disease recurrence can occur despite creation of an end ileostomy and may lead to peristomal complications such as fistula formation, abscesses, stoma retraction, or strictures. We present the case of a 51-year-old man with medically refractory ileocolonic Crohn's disease who underwent a proctocolectomy with end ileostomy. The disease course was complicated by recurrence of ileal Crohn's disease despite biological therapy. The patient presented with peristomal complications including an enterocutaneous fistula, stoma retraction, and an ileal stricture necessitating surgical revision of the ileostomy. Review of literature confirms an approximately 30% risk of recurrence of Crohn's disease after an end ileostomy. A penetrating phenotype and preexisting ileal disease are risk factors for disease recurrence. A thorough evaluation of the stoma/peristomal area and evaluation of the small bowel by ileoscopy and small bowel imaging are required to assess the extent of disease and extraluminal complications such as stomal retraction and fistulas that require further surgical intervention. While postoperative medical treatment with immunosuppression or biological therapy is often employed, these therapies are unproven to prevent postoperative recurrence in the setting of a stoma.     

Adult neuroblastoma: a case report

A rare case of adult neuroblastoma is presented. A 20-year-old woman complaining of fever and left abdominal tumor was admitted on July 14, 1984 and diagnosed as left nonhormonal adrenal tumor after DIP, CT scanning, and hormonal assay in serum and urine. Left radical nephrectomy was done and the histological diagnosis was neuroblastoma. The chemotherapy of EDX, 5FU was done in 5 courses, but the patient had multiple metastasis and died on November 30, 1984. Neuroblastoma in the adult is rare and 40 cases (greater than 15-year-old) have been reported in the past 5 years, 20 of which were olfactory neuroblastoma. Particularly in urological sites, only 13 cases (greater than 15-year-old) have been reported for the past 20 years. Thus it is a characteristic of adult neuroblastoma that the occurrence in the retroperitoneal cavity is very low, compared with 60-70% of neuroblastoma in children.     

Declining coronary heart disease mortality in Iceland: contribution by incidence,recurrence and case fatality rate

OBJECTIVE: To analyse to what extent the recent decline in coronary heart disease mortality in Iceland is due to changes in incidence, recurrence and case fatality rates. DESIGN: A countrywide registration of myocardial infarction (MI) in people aged 25-74 was performed in Iceland during 1981-1999 according to the MONICA protocol. Possible cases were found by review of all hospital discharge records, autopsy records and death certificates. RESULTS: MI death rate declined by 63% in males and 51% in females, most in the youngest age groups in men (86%) and least in the oldest (49%). In women there was not a significant difference in age groups. Overall the age-adjusted reduction in MI death rate was 55.4% in both sexes combined; of this 23.1% was due to incidence reduction, 22.8% to recurrence reduction and 11.6% to case fatality reduction. In the youngest age groups the decline in incidence contributed most to the decline in MI death rate (62% in men and 71% in women), but thereafter the decline in case fatality in men. In the older age groups decline in recurrence rate has greater weight. CONCLUSION: The recent decline in MI mortality under the age of 75 years in Iceland is due to reduction in incidence and recurrence rate by about 40% each and to reduction in case fatality by 20%.